ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)

dbSNP: rs201139275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663179 SCV000786346 uncertain significance Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568483 SCV005055607 uncertain significance Dilated cardiomyopathy 1GG 2024-02-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001358067 SCV005190363 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358067 SCV001553715 uncertain significance not provided no assertion criteria provided clinical testing Low coverage
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases RCV002512120 SCV002549060 pathogenic Pulmonary artery atresia no assertion criteria provided clinical testing

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